Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.418989T>C , CM000681.2:g.418989T>C | GRCh38 |
| NC_000019.9:g.418989T>C , CM000681.1:g.418989T>C | GRCh37 |
| NC_000019.8:g.369989T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264554.11:c.1688A>G MANE Select | ENSP00000264554.4:p.Gln563Arg | |
| ENST00000264554.10:c.1688A>G | ENSP00000264554.4:p.Gln563Arg | |
| ENST00000587423.5:n.891A>G | ||
| ENST00000588376.5:n.751A>G | ||
| ENST00000590170.3:c.627A>G | ||
| NM_012435.2:c.1688A>G | NP_036567.2:p.Gln563Arg | |
| XM_011527895.1:c.1553A>G | XP_011526197.1:p.Gln518Arg | |
| XM_011527895.2:c.1553A>G | XP_011526197.1:p.Gln518Arg | |
| NM_001387056.1:c.1553A>G | NP_001373985.1:p.Gln518Arg | |
| NM_012435.3:c.1688A>G MANE Select | NP_036567.2:p.Gln563Arg |